HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038099_52038100del , CM000666.2:g.52038099_52038100del | GRCh38 |
NC_000004.11:g.52904265_52904266del , CM000666.1:g.52904265_52904266del | GRCh37 |
NC_000004.10:g.52599022_52599023del | NCBI36 |
NG_008891.1:g.5220_5221del , LRG_204:g.5220_5221del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+127_33+128del MANE Select | ENSP00000370839.6:n.33+127_33+128del | |
ENST00000381431.9:c.33+127_33+128del | ENSP00000370839.5:n.33+127_33+128del | |
ENST00000506357.5:c.19+127_19+128del | ||
NM_000232.4:c.33+127_33+128del , LRG_204t1:c.33+127_33+128del | NP_000223.1:n.33+127_33+128del | |
XM_011534403.1:c.33+127_33+128del | XP_011532705.1:n.33+127_33+128del | |
NM_000232.5:c.33+127_33+128del MANE Select | NP_000223.1:n.33+127_33+128del |